Carlo Rinaldi, MD, PhD, has been selected as the recipient of a development grant co-funded by the AANEM Foundation and the Muscular Dystrophy Association (MDA). Dr. Rinaldi, who works as an Associate Professor in the Department of Physiology, Anatomy and Genetics in the Division of Medical Sciences at the University of Oxford in the United Kingdom, will be using this funding to increase understanding of the pathophysiology of spinal and bulbar muscular atrophy (SBMA). SBMA is a neuromuscular disorder characterized by the degeneration of lower motor neurons and primary muscle atrophy. Dr. Rinaldi’s ultimate goal is to develop effective therapeutic treatments for this yet incurable condition.

Dr. Rinaldi’s research objective is to characterize the role
of the androgen receptor (AR) isoform 2 on AR biology and its impact on SBMA
toxicity. His central hypothesis is that AR45 is a key regulator of AR activity
and represents a promising therapeutic target for SBMA.

“There is currently no treatment available for SBMA,”
explained Dr. Rinaldi. “This research work has the potential to shed new light
on the role of the AR isoforms in both health and disease, advance
understanding of the mechanisms of pathogenesis in SBMA, and provide a new
therapeutic target in close relationship with the disease-causing
mutation.”

“Dr. Rinaldi has the strong support of the Neuroscience community
in Oxford to pursue his research into the mechanisms of motor neuron
degeneration in SBMA,” noted Kevin Talbot, MB, PhD, FRCP, Head of the Division
of Clinical Neurology and Professor of Motor Neuron Biology and Consultant
Neurologist at John Radcliffe Hospital in Oxford. “This is a neglected area and
he is in an excellent position to be a leader in this field, both within Europe
and worldwide.” …

Abstract:

“Peculiar
cognitive profile of patients with SBMA has been described by fragmented
literature. Our retrospective study reports the neuropsychological evaluations
of a large cohort of patients in order to contribute towards the understanding
of this field. We consider 64 neuropsychological evaluations assessing mnesic,
linguistic and executive functions collected from 2013 to 2015 in patients
attending at Motor Neuron Disease Centre of University of Padova (Italy)…”

“…the aim of the
present study is to report the neuropsychological evaluation of a large sample
of SMBA patients in order to contribute towards the definition of these patients’
cognitive profile.”

“…administered
brief neuropsychological battery aimed to a fast evaluation of short- and
long-term memory, linguistic abilities and executive functioning (for details
please see methodological section). The tasks’ choice had a clinical finality
and was aimed to assess the integrity of the cognitive functions in order to
eventually consider hinderances to an adequate communication with the doctor,
or that could undermine patients’ compliance in the home management of care…”

Results:

Neuropsychological
findings - “ANCOVA results
showed no statistically significant difference between groups in all the
examined test performance, except for the Babcock Story Recall Test score, in
which patients performed better than control participants, with no relevant
influence of age and education. Education level was instead a statistically
significant covariate for all the other measures, while participants’ age was
found statistically significant for the TMT B-A and the DSf scores only…”

Discussion – “No frank cognitive impairment was found
in our retrospective study on 64 patients with SBMA, as deduced from the scores
of patients on neuropsychological tests, compared with those of healthy male
subjects. Surprisingly, patients showed better performance on the Prose Memory
test score…”

“…This
interpretation nicely fits with the phenomenon of the so called somatic
mosaicism, characterizing this pathology. It implies that the number
of CAG-repeats is not constant in every cell of an individual, but it may vary
across tissues, including the cerebral ones; such an instability is typical of
other neuromuscular diseases…”

Full Disclosure:My ‘wonderful’
wife never said those things. She has questioned my intelligence, however, when
I do something dumb and end up falling.

A Special Thank you:Istvan
Reinhardt sent me the link to the above study.

Monday, September 10, 2018

Below is a guest post from Hazel Bridges. I consider it an excellent primer for an important subject facing most everyone at sometime in their life, not just those of us living with Kennedy's Disease. Thanks, Hazel, for sharing this information.

Living with a Chronic Disease

Long-Term Care Options

When you wake up in pain every morning, can’t
handle daily living tasks, or have difficulty with cognitive functions, you
need help. Often, that help comes in the form of loving friends and family who
want to lend a hand. However, the reality is that you must also plan for
long-term care needs that can’t be handled by your loved ones.

Planning
for Long-Term Care

Barriers
to Self-Care

Chronic illnesses present specific barriers to
long-term self-care. The Lippincott Nursing Center categorizes these as psychological,
physical, cognitive, economic, and social and cultural. Regardless of the
reason care is required, the decision to choose at-home or residential/nursing
care is deeply personal and requires planning and preparation.

Care at
Home

Home is the most comfortable place for the
vast majority of people with chronic illnesses. And with a little help, it can
be a safe haven for recovery or just to enjoy life on your own terms.
HomeAdvisor explains there are numerous forms of at-home services. These include:

●Home health aides. A home health aide is an
individual who helps with daily tasks such as hygiene and bathing. They may
also assist with cooking, laundry, and grocery shopping. Home health aides are
not licensed for offer medical services.

●Adult day care. These facilities are designed
to cater to older adults or those with physical and cognitive disabilities.
They offer supervision and assist with dispensing medications and hygiene as
needed.

●Skilled nursing. For individuals with health
needs beyond the capabilities of themselves, friends, and family, a licensed
nurse can provide more in-depth and involved medical services. This may include
administering injected medications and assisting with physical therapy
activities.

Residential/Nursing
Facilities

If home health care is no longer feasible, an
assisted living or skilled nursing care facility is an option. While typically
associated with seniors, these housing programs may also be available to
adults, teens, and children with severe disabilities.

●Assisted living. An assisted living campus is
one where individuals and couples (typically seniors) live in their own
apartment, home, or condominium. They have access to a central campus area that
provides recreational activities. Assisted living often includes housekeeping,
meals, and help taking medication.

●Skilled nursing. A skilled nursing care
facility is different from assisted living in that people who live here are not
able to care for themselves without direct medical intervention. Those
who reside in a skilled nursing care facility may have the option of living in
a private room or sharing accommodations with another patient in order to
receive a discounted fee and enjoying constant companionship.

Paying
for Long-Term Care

Covering
Costs

One of the main concerns of receiving paid
care is the question of financing it. Elmcroft Senior Living estimates that long-term nursing care averages
between $225 and $253 per day. À la carte home services may be less expensive
with an at-home caregiver charging an average of between $10 and $35 per hour.
Medicare does not cover the cost of assisted living or skilled nursing care for
the long-term. Paying for these accommodations and services often falls to
private health insurance, Medicaid, individual savings, or SSI disability.

Lifestyle
Factors That Affect the Need for Care

Those living with a chronic disease may have
no choice other than to receive care the vast majority of their lives. Others,
however, may find that small lifestyle changes reduce reliance on others.
People who smoke are more likely to need intense medical supervision later in
life than those that don’t. Exercise can also help preserve independence by
keeping muscles strong and improving balance, which will lower the possibility
of sustaining a falling injury. Excessive drinking, drug use, and engaging in risk-taking
behaviors can also increase the chances that you or a loved one will need
medical care. Minor home modifications, such as added lighting and a wheelchair
ramp, may also extend your ability to remain independent.

For more
information on making the decision to enter or put a loved one into nursing
care, visit the AARP online.

Friday, September 7, 2018

"Don't give up the ship" was the dying command of James Lawrence in 1813 aboard the USS Chesapeake. Those words should be the battle cry for all of us living with Kennedy’s Disease, aka Spinal Bulbar Muscular Atrophy.

At times, it is easy to feel defeated. This is especially true after a ‘slide’. When we experience them, the first thought is will I bounce back. The next thought is usually laced with fear. What happens if I do not bounce back?

In my 40+ years of living with Kennedy’s Disease, I have experienced my share of slides. When I was a little younger and more resilient, my slides were steep and my bounces just as dramatic. These last few years, my bounces are not as dramatic and sometimes there is no bounce at all.

A few months back my choking became a daily issue. Almost everything I tried to eat would not go down without a fight. It took me thirty to sixty minutes to eat a meal. Many times, I could not finish a meal because of the choking. I lost more weight and began to research other options for receiving the required nutrition.

These choking episodes went on for a couple of months. It got to a point where I did not want it to be mealtime. Yet, something inside kept telling me to practice my swallowing exercises. Then, during the first week of August, I noticed an improvement. Food was going down easier. I found myself eating more and enjoying my meals again. The last few weeks I discovered I am putting on weight again.

During the ‘bounce back’, I continued to practice what I learned during the choking period. I drink water to help wash food down. I use more gravy and other juices to make it easier to swallow. I limit ‘sticky’ foods like bread that have crumbs and are more difficult to swallow. And, most importantly, I now practice my swallowing exercises at least three times a day.

Emerson said, "Life is a journey, not a destination."

Learning to live with Kennedy's Disease is my journey. It's not easy ... but its the only game in town.

This journey has no end-state or a final destination where I can say, "I finally made it!" It is, in fact, a long arduous journey of self-discovery.

"Life is a succession of lessons that must be lived to be understood." I have used the analogy that learning to live with Kennedy's Disease is like trying to cross a stream without getting wet. The only way is by using the stepping stones provided (my chosen life's path). Each step is a "life experience" and I must come to terms with that experience (regain my balance) before being able to take the next step. It is a slow and often challenging journey, but I am finding it very fulfilling.

"Nothing comes into experience uninvited." If I am to learn how to live with this disease I must be open (receptive) to both the good and the bad that accompanies these life experiences.

"Acceptance" is what I am working on today. For without it, I will never be able to take the next step.

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DisclaimerThe views and opinions expressed on this blog are those strictly of the author. Information provided should not be considered medical advice nor the advice of a trained medical professional or physical therapist. The author has made a reasonable effort to ensure that all information provided is accurate, but as with any document, errors might occur. It is entirely the responsibility of the reader to determine the validity of any information provided. Any decisions made based upon the information provided are entirely the reader's responsibility. The author and the Kennedy's Disease Association do not accept any liability for any direct, indirect, special or consequential damages, or damages of any kind resulting from any cause through the use of any information obtained either directly or indirectly from this blog.

Learn more about Kennedy's Disease (SBMA)

Spinal Bulbar Muscular Atrophy (a.k.a. Kennedy's Disease) is an X-linked, adult onset, progressive muscle disorder.Because of its similarities to ALS, it is often initially misdiagnosed. Kennedy’s Disease does not show up until later in life (normally mid-20s to early 40s) and it gradually erodes your strength by killing off the muscles and motor neurons in your body.Doctors classify it as rare disorder and estimate that 1-in-40,000 men have it. Women with the defective gene are carriers.There is no treatment or cure for this disorder.If you want to learn more about Spinal Bulbar Muscular Atrophy, go to http://www.kennedysdisease.org. Or, Visit the KDA on Facebook

The Kennedy's Disease Association (KDA) is a 100% volunteer 501(c)3 tax-exempt California incorporated non-profit. 90¢ of every dollar donated goes to funding research for a treatment/cure and education. To help us find a cure, please consider making a donation for Kennedy's Disease research (http://www.kennedysdisease.org/find-cure).